Hi, my name is Amelia, and I am 3 years old.

I live with a very rare genetic disorder called Phelan McDermid syndrome. This affects just 1 in 10,000 people. There is currently no cure.

My condition is caused by a deletion of the SHANK3 gene, which is vital for brain development. Because of this, I face challenges every single day that most people never have to think about. I have low muscle tone, severe developmental delay, and I am non-verbal. I am also on the autism spectrum.

Alongside this, I live with a weakened immune system, vision and hearing loss, sleep difficulties, kidney failure, heart defects, and frequent seizures. I also have a reduced sense of pain, which can be dangerous as I cannot always tell when something is wrong.

My journey to diagnosis was long and exhausting. It took over a year of tests, hospital stays, and countless appointments before my family finally had answers.

To care for me, my mum had to give up her full-time job. She is now my full-time carer, providing me with the constant love, attention, and support I need.

I need 24/7 care because I cannot walk, talk, or do things independently. I rely on others for everything—eating, drinking, getting dressed, moving around, and taking medication so I can go to the toilet.

Sleep is also a huge challenge for me. I rarely sleep for more than four hours a night, even with oxygen and medication to help.

At home, I rely on specialist equipment to keep me safe and comfortable. I need supportive seating to help me eat, along with thickened fluids because I have an unsafe swallow. This puts me at constant risk of chest infections, and with my weak immune system, even a small illness can lead to long hospital stays.

I also use a standing frame to help build my strength and a special bath chair to keep me safe. I am supported by a large team of specialists because I cannot sit or stand on my own. I also wear a hearing band to help me hear the world around me.

Despite everything I go through, I still smile every single day.

I love trying new foods, and my absolute favourite thing in the world is Peppa Pig.

How you can help

Your support can make a real difference to my life. Donations will help provide essential specialist equipment, therapies, and support to improve my comfort, development, and quality of life.

Every donation, no matter how small, means so much to me and my family.

Thank you for taking the time to read my story and for helping me in any way you can.